Progressive enlargement of the first and second digits.
The patient presented with progressive enlargement of the first and second digits of the left hand.
Plain radiographs of both hands were performed. These showed soft tissue hypertrophy with enlargement of the metacarpals and phalanges of the first and second digits. No other abnormality were seen. The findings were in keeping with changes of macrodystrophia lipomatosa.
Macrodystrophia lipomatosa is a rare congenital form of localised gigantism characterised by a disproportionate increase in all the mesenchymal elements, especially fibroadipose tissue. It is associated with slowly progressive unilateral hypertrophy of the phalanges and affected limb. The cause of this condition is obscure.
Clinically, the macrodactyly is seen at birth and is progressive. The abnormality is always unilateral, and usually in the distribution of the median nerve or the plantar nerve. The second and third digit of the hand are commonly involved, with the foot less frequently affected. Secondary degenerative arthropathy is seen in young adults with limitation of joint movement.
Radiographically, plain films demonstrate the bony changes. Soft tissue lucency due to fat deposition may or may not be seen because sometimes soft tissue hypertrophy is due to the deposition of mixed fibro-fatty tissue. There is enlargement of the bones, with marginal erosions, joint destruction and irregular periosteal reaction. Ankylosis can occur with bands of dense bone. CT and MR delineate the tissues involved and are virtually diagnostic, demonstrating predominantly the adipose component as well as the overgrowth of the bones of the affected regions. There is absence of angioma or arterio-venous fistula. MR may also demonstrate fibrolipomatous hamartoma of the nerve of the affected region in some cases.
Macrodystrophia lipomatosa
Based on the X-ray images of the child’s hands provided, the following findings are observed:
Taking into account the child’s age (5 years old), progressive finger enlargement, unilateral involvement, and radiographic findings of bone and soft tissue overgrowth, the following diagnoses or differential diagnoses are considered:
Considering the child’s age, clinical symptoms, and imaging findings, the most likely diagnosis is: Macrodystrophia Lipomatosa.
For further clarification, MRI or CT imaging can help assess the proportion of adipose tissue and its relationship with nerves and blood vessels. If necessary, a biopsy may be conducted to rule out other rare pathologies.
1. Treatment Strategy
2. Rehabilitation Training and Exercise Prescription
In everyday life, the following rehabilitation and exercise regimen may be helpful:
For children at high risk of bone fragility or joint impairment, care must be taken to moderate movement range and weight-bearing for safety.
Disclaimer: This report provides a reference analysis based on current information and does not replace in-person consultation or the advice of a qualified medical professional. Please seek medical attention if you have any concerns or if symptoms worsen.
Macrodystrophia lipomatosa